Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02571:Mrpl12'

299013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl12

Ensembl Gene

ENSMUSG00000039640

Gene Name

mitochondrial ribosomal protein L12

Synonyms

MRP-L12, Rpml12, 1500031N16Rik, 0610034O11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02571

Quality Score

Status

Chromosome

Chromosomal Location

120375463-120379580 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 120376258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000043627] [ENSMUST00000106203] [ENSMUST00000106205]

AlphaFold

Q9DB15

Predicted Effect

probably benign
Transcript: ENSMUST00000026900

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	406	500	1.2e-41	PFAM
low complexity region	637	658	N/A	INTRINSIC
low complexity region	746	767	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000043627

SMART Domains

Protein: ENSMUSP00000044417
Gene: ENSMUSG00000039640

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
Pfam:Ribosomal_L12_N	64	120	4.5e-13	PFAM
Pfam:Ribosomal_L12	133	201	5.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106203

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	405	500	2.2e-48	PFAM
low complexity region	724	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106205

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	404	499	2.2e-48	PFAM
low complexity region	723	738	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180595

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a2	T	C	14: 60,249,907 (GRCm39)		probably benign	Het
Cacna2d2	G	A	9: 107,402,845 (GRCm39)	E885K	possibly damaging	Het
Cyp4f17	A	G	17: 32,743,878 (GRCm39)	E352G	probably benign	Het
Dip2b	T	C	15: 100,055,766 (GRCm39)	W373R	possibly damaging	Het
Garin3	G	T	11: 46,296,072 (GRCm39)	R148L	probably damaging	Het
Gem	C	A	4: 11,713,628 (GRCm39)	Q255K	probably benign	Het
Herc1	T	C	9: 66,341,887 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,803,134 (GRCm39)	N2161I	probably damaging	Het
Ift172	A	G	5: 31,415,235 (GRCm39)	F1325L	probably damaging	Het
Irgc	T	C	7: 24,132,016 (GRCm39)	K267R	probably damaging	Het
Kif1a	A	G	1: 92,948,178 (GRCm39)		probably null	Het
Lifr	G	T	15: 7,219,592 (GRCm39)		probably benign	Het
Mrps18c	A	G	5: 100,949,841 (GRCm39)	D74G	probably damaging	Het
Mtus1	C	T	8: 41,536,519 (GRCm39)	G399D	possibly damaging	Het
Nf1	T	C	11: 79,319,453 (GRCm39)	I536T	probably damaging	Het
Or5a3	C	A	19: 12,400,250 (GRCm39)	S192R	possibly damaging	Het
Pcdh9	A	G	14: 93,798,023 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rubcnl	A	T	14: 75,269,576 (GRCm39)	Q78L	possibly damaging	Het
Sis	C	A	3: 72,863,637 (GRCm39)		probably benign	Het
Tbc1d2	T	C	4: 46,628,370 (GRCm39)	M320V	probably benign	Het
Vmn1r178	C	T	7: 23,593,660 (GRCm39)	T236I	probably damaging	Het
Xpc	T	C	6: 91,481,053 (GRCm39)	D273G	probably benign	Het
Zfhx4	A	C	3: 5,394,583 (GRCm39)	N1033T	probably damaging	Het
Zfp646	A	G	7: 127,478,584 (GRCm39)	T254A	probably damaging	Het

Other mutations in Mrpl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Mrpl12	APN	11	120,376,202 (GRCm39)	missense	possibly damaging	0.61
R0076:Mrpl12	UTSW	11	120,376,268 (GRCm39)	unclassified	probably benign
R0471:Mrpl12	UTSW	11	120,379,229 (GRCm39)	missense	probably damaging	1.00
R1370:Mrpl12	UTSW	11	120,376,127 (GRCm39)	missense	probably benign
R7227:Mrpl12	UTSW	11	120,379,178 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16